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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Adducted Thumbs Syndrome +
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
anterior segment dysgenesis +
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant non-syndromic intellectual disability 22
Autosomal Dominant Tubulointerstitial Kidney Disease 1
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome +
Axial Mesodermal Dysplasia Spectrum
Bamforth-Lazarus syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beckwith-Wiedemann syndrome +
Ben Ari Shuper Mimouni Syndrome
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Birk-Landau-Perez Syndrome
Bloch-Sulzberger syndrome +
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brittle Cornea Syndrome +
Broad Terminal Phalanges, Familial
Burnett Schwartz Berberian Syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
caudal regression syndrome
Cerebrofaciothoracic Dysplasia
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
Chondrodysplasia, Megarbane-Dagher-Melki Type
chromosome 15q26-qter deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 6pter-p24 deletion syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cole-Carpenter syndrome +
Colobomatous Macrophthalmia with Microcornea
Combined Pituitary Hormone Deficiency, 1
Combined Pituitary Hormone Deficiency, 4
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +
congenital secretory sodium diarrhea 3
Cornelia de Lange syndrome +
Costocoracoid Ligament Congenitally Short
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis with Ocular Abnormalities and Hallucal Defects
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
diffuse cystic renal dysplasia
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities
Dincsoy Salih Patel Syndrome
distal arthrogryposis type 7
Dwarfism Stiff Joint Ocular Abnormalities
Ectrodactyly Cardiopathy Dysmorphism
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
exudative vitreoretinopathy +
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Feingold Trainer Syndrome
Femur Bifid with Monodactylous Ectrodactyly
Femur Fibula Ulna Syndrome
Forney Robinson Pascoe Syndrome
Foveal Hypoplasia and Anterior Segment Dysgenesis
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Fronto-Facio-Nasal Dysplasia
Gardner Morrisson Abbot Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Heart Defects Limb Shortening
Hersh Podruch Weisskopk Syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hunter-Macdonald Syndrome
Hyperphosphatasia with Mental Retardation +
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
Insulin-Like Growth Factor I, Resistance To
iridogoniodysgenesis syndrome +
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Joubert syndrome 1 A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)
Joubert syndrome with orofaciodigital defect
Jung Wolff Back Stahl Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Krauss Herman Holmes Syndrome
lateral meningocele syndrome
Le Marec Bracq Picaud Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
Light Fixation Seizure Syndrome
linear nevus sebaceous syndrome +
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Marles Greenberg Persaud Syndrome
maturity-onset diabetes of the young type 5
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Medullary Sponge Kidney +
megacystis-microcolon-intestinal hypoperistalsis syndrome
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Menke-Hennekam Syndrome +
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcornea, Glaucoma, and Absent Frontal Sinuses
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
Microdontia Hypodontia Short Stature
Microspherophakia with Hernia
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Muller Barth Menger Syndrome
Multicystic Dysplastic Kidney +
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple pterygium syndrome +
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
Nephrotic Syndrome with Ocular Anomalies
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
non-congenital cyst of kidney
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
oblique facial clefting 1
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
orofaciodigital syndrome +
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Patterson Pseudoleprechaunism Syndrome
Pelvis-Shoulder Dysplasia
Pena Shokeir Syndrome Type 2
Penoscrotal Transposition
persistent hyperplastic primary vitreous +
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
Piepkorn Karp Hickok syndrome
polycystic kidney disease +
popliteal pterygium syndrome +
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
Prepapillary Vascular Loops
Pseudoaminopterin Syndrome
Pupillary Membrane, Persistence of
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Ramos Arroyo Clark Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
Renal TSC2 Angiomyolipomas, Modifier of
Renal Tubular Dysgenesis with Choanal Atresia and Athelia
renal-hepatic-pancreatic dysplasia +
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Ritscher-Schinzel syndrome +
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell syndrome
Schaefer Stein Oshman Syndrome
Schinzel-Giedion Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Seckel Like Syndrome Type Buebel
Sharma Kapoor Ramji Syndrome
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
SIFRIM-HITZ-WEISS SYNDROME
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome type 2
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Smith-Lemli-Opitz syndrome +
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
Squalene Synthase Deficiency
STANKIEWICZ-ISIDOR SYNDROME
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stoelinga de Koomen Davis Syndrome
SULEIMAN-EL-HATTAB SYNDROME
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
Tollner Horst Manzke Syndrome
torsion dystonia with onset in infancy
Tricho-Dento-Osseous Syndrome 1
Triphalangeal Thumbs Brachyectrodactyly
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van den Ende-Gupta syndrome
Velofacioskeletal Syndrome
ventriculomegaly - cystic kidney disease
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Winter Harding Hyde Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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